A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972578



Internal ID19697832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65868187..66971667hg38UCSC Ensembl
chr3:65853862..67022091hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381103481
hg191168230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4092018
Supporting Variants
Samples
Known GenesLRIG1, MAGI1, MAGI1-AS1, SLC25A26
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15972578
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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